Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)
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Charcot-Marie-Tooth disease type 1E
Summary
Charcot-Marie-Tooth disease type 1E is a head and neck disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as head and neck disease[2].
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as developmental defect during embryogenesis[3].
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as rare disease[4].
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as class of disease[5].
- Charcot-Marie-Tooth disease type 1E's subclass of is recorded as Charcot-Marie-Tooth disease type 1[6].
- Charcot-Marie-Tooth disease type 1E's subclass of is recorded as syndromic genetic deafness[7].
- Charcot-Marie-Tooth disease type 1E's subclass of is recorded as autosomal dominant disease[8].
- Charcot-Marie-Tooth disease type 1E's MeSH descriptor ID is recorded as C538078[9].
- Charcot-Marie-Tooth disease type 1E's MeSH descriptor ID is recorded as C537986[10].
- Charcot-Marie-Tooth disease type 1E's OMIM ID is recorded as 118300[11].
- Charcot-Marie-Tooth disease type 1E's Disease Ontology ID is recorded as DOID:0110153[12].
- Charcot-Marie-Tooth disease type 1E's Orphanet ID is recorded as 90658[13].
- Charcot-Marie-Tooth disease type 1E's health specialty is recorded as neurology[14].
- Charcot-Marie-Tooth disease type 1E's genetic association is recorded as PMP22[15].
- Charcot-Marie-Tooth disease type 1E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110153[16].
- Charcot-Marie-Tooth disease type 1E's exact match is recorded as http://identifiers.org/doid/DOID:0110153[17].
- Charcot-Marie-Tooth disease type 1E's UMLS CUI is recorded as C3495591[18].
- Charcot-Marie-Tooth disease type 1E's UMLS CUI is recorded as C2931686[19].
- Charcot-Marie-Tooth disease type 1E's UMLS CUI is recorded as C1861669[20].
- Charcot-Marie-Tooth disease type 1E's ICD-10-CM is recorded as G60.0[21].
- Charcot-Marie-Tooth disease type 1E's GARD rare disease ID is recorded as 9190[22].
- Charcot-Marie-Tooth disease type 1E's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
- Charcot-Marie-Tooth disease type 1E's Mondo ID is recorded as MONDO_0007311[24].
- Charcot-Marie-Tooth disease type 1E's UniProt disease ID is recorded as DI-00272[25].